El-Shanti Hatem I
University of Iowa Hospitals and Clinics, Department of Pediatrics, Division of Medical Genetics, USA.
Saudi J Kidney Dis Transpl. 2003 Jul-Sep;14(3):378-85.
Familial Mediterranean Fever (FMF) is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks such as joint or chest pain that differ in quality across patients and even within the same patient. The gene responsible for FMF, MEFV, has been cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The major renal involvement in FMF is the occurrence of amyloidosis that primarily affects the kidneys causing proteinuria and ending in death from renal failure. It can be treated by dialysis and renal transplantation, but can be prevented by a daily regimen of colchicine. Other renal manifestations of FMF are discussed.
家族性地中海热（FMF）是一种常在阿拉伯人群中被诊断出的遗传性疾病。它在犹太人、亚美尼亚人和土耳其人中也很普遍。临床表现为发热和疼痛发作，如关节痛或胸痛，不同患者甚至同一患者的症状性质都有所不同。导致FMF的基因MEFV已被克隆，其编码序列内的突变也已被识别。它编码一种预计为炎症下调因子的蛋白质。FMF主要的肾脏受累情况是淀粉样变性的发生，主要影响肾脏，导致蛋白尿，最终因肾衰竭死亡。它可以通过透析和肾移植进行治疗，但通过每日服用秋水仙碱可以预防。文中还讨论了FMF的其他肾脏表现。
